A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

Human Mutation

Volumn 32, Issue 8, 2011, Pages 965-977

  Wu, Xiaoyang ^a   Katz, Evan ^a   Valle, Maria Cecilia Della ^a   Mascioli, Kirsten ^a   Flanagan, John J ^a   Castelli, Jeffrey P ^a   Schiffmann, Raphael ^b   Boudes, Pol ^a   Lockhart, David J ^a   Valenzano, Kenneth J ^a   Benjamin, Elfrida R ^a  

^a Amicus Therapeutics   (United States)

^b BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Galactosidase A; AT1001; Fabry; Pharmacological chaperone

Indexed keywords

ALPHA GALACTOSIDASE; LARAZOTIDE;

ARTICLE; CELL STRAIN HEK293; CONCENTRATION RESPONSE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DRUG POTENCY; ENZYME ACTIVITY; FABRY DISEASE; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHARMACOGENETICS; PHASE 2 CLINICAL TRIAL; POINT MUTATION; PRIORITY JOURNAL; TREATMENT RESPONSE;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; BIOLOGICAL ASSAY; ENZYME ACTIVATION; FABRY DISEASE; GENE EXPRESSION REGULATION; HEK293 CELLS; HUMANS; LEUKOCYTES, MONONUCLEAR; MALE; MUTANT PROTEINS; POINT MUTATION; PROTEIN CONFORMATION;

EID: 79960844736     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21530     Document Type: Article

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